Mondo Description Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects.
Uniprot Description A disorder characterized by limb and genitourinary anomalies. Clinical features include small feet with unusually short great toes and abnormal thumbs. Females with the disorder have duplication of the genital tract.
Disease Ontology Description A autosomal dominant disease characterized by distal limb defects (short thumbs and first toes, clinodactyly of the fifth fingers, delayed ossification of the wrist and ankle bones), urogenital defects and that has material basis in heterozygous mutation in the HOXA13 gene on chromosome 7p15.
Mondo Term and Equivalent IDs
MONDO:0007698: hand-foot-genital syndrome